Incidental Mutation 'R8350:Grin1'
| ID |
660197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin1
|
| Ensembl Gene |
ENSMUSG00000026959 |
| Gene Name |
glutamate receptor, ionotropic, NMDA1 (zeta 1) |
| Synonyms |
NR1, GluRzeta1, NMDAR1, M100174, Nmdar, Rgsc174 |
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25188323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 448
(R448C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114314]
[ENSMUST00000114317]
[ENSMUST00000114318]
|
| AlphaFold |
P35438 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028335
AA Change: R448C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: R448C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
6.6e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.5e-18 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114307
AA Change: R448C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: R448C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114308
AA Change: R469C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: R469C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114310
AA Change: R469C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: R469C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
39 |
299 |
3.6e-24 |
PFAM |
|
Blast:PBPe
|
352 |
420 |
9e-37 |
BLAST |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
8.4e-17 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114312
AA Change: R448C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: R448C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
5.9e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114314
AA Change: R448C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: R448C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1.1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.3e-19 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114317
AA Change: R469C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: R469C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
7.7e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114318
AA Change: R469C
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: R469C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8.4e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.4e-19 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
T |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
G |
8: 56,325,224 (GRCm39) |
V410A |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,850,815 (GRCm39) |
T575A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,353 (GRCm39) |
K877E |
possibly damaging |
Het |
| Arpin |
A |
T |
7: 79,581,615 (GRCm39) |
I35N |
possibly damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcas1 |
T |
C |
2: 170,248,220 (GRCm39) |
N234D |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,668 (GRCm39) |
G649E |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,322,181 (GRCm39) |
L516Q |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,512,494 (GRCm39) |
V90L |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,896,552 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Cystm1 |
T |
C |
18: 36,526,303 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,327,231 (GRCm39) |
Q727K |
probably damaging |
Het |
| Dpf3 |
G |
A |
12: 83,397,625 (GRCm39) |
R80C |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,127,667 (GRCm39) |
T882M |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,345,795 (GRCm39) |
K104R |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,793,614 (GRCm39) |
V1172A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,548 (GRCm39) |
Q120* |
probably null |
Het |
| Igsf10 |
G |
A |
3: 59,238,949 (GRCm39) |
P411S |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,165 (GRCm39) |
D335E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,503,960 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,947 (GRCm39) |
E874G |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,824,973 (GRCm39) |
C1529* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,495,242 (GRCm39) |
Y32N |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,227,998 (GRCm39) |
N638K |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,200 (GRCm39) |
D1611E |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,805 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,603,688 (GRCm39) |
V138A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,813,463 (GRCm39) |
E251D |
probably benign |
Het |
| Or13c7e-ps1 |
T |
A |
4: 43,782,175 (GRCm39) |
I52F |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,176 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,260 (GRCm39) |
M274L |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,411,901 (GRCm39) |
M1L |
probably benign |
Het |
| Pias1 |
G |
A |
9: 62,859,266 (GRCm39) |
H72Y |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,277,679 (GRCm39) |
V225I |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,483 (GRCm39) |
V661A |
probably benign |
Het |
| Ptpn1 |
T |
A |
2: 167,816,161 (GRCm39) |
F225Y |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,868,898 (GRCm39) |
V1425M |
probably damaging |
Het |
| Rbfox1 |
C |
A |
16: 7,094,954 (GRCm39) |
S111R |
probably benign |
Het |
| Rbm24 |
T |
C |
13: 46,572,676 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
G |
4: 121,027,954 (GRCm39) |
K224T |
probably damaging |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,485 (GRCm39) |
L5F |
probably damaging |
Het |
| Sdr42e2 |
T |
C |
7: 120,419,873 (GRCm39) |
L206P |
probably damaging |
Het |
| Serpinb9g |
A |
G |
13: 33,676,854 (GRCm39) |
E212G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,146 (GRCm39) |
Y524C |
probably damaging |
Het |
| Sh3pxd2a |
C |
A |
19: 47,258,277 (GRCm39) |
E475D |
probably null |
Het |
| Skil |
A |
G |
3: 31,151,603 (GRCm39) |
T42A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,311,207 (GRCm39) |
V203A |
probably damaging |
Het |
| Sugp2 |
C |
T |
8: 70,695,641 (GRCm39) |
R205* |
probably null |
Het |
| Tle1 |
C |
A |
4: 72,057,203 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
A |
12: 87,119,660 (GRCm39) |
L318Q |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,717,759 (GRCm39) |
I248V |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,741 (GRCm39) |
C707* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,241,837 (GRCm39) |
G154D |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,713 (GRCm39) |
D3491E |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,869 (GRCm39) |
L77P |
probably damaging |
Het |
| Zer1 |
C |
T |
2: 29,991,862 (GRCm39) |
E653K |
probably damaging |
Het |
| Zfyve27 |
T |
C |
19: 42,167,911 (GRCm39) |
V151A |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,064 (GRCm39) |
S129C |
probably damaging |
Het |
|
| Other mutations in Grin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Grin1
|
APN |
2 |
25,186,979 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01627:Grin1
|
APN |
2 |
25,208,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Grin1
|
APN |
2 |
25,195,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02074:Grin1
|
APN |
2 |
25,188,514 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02083:Grin1
|
APN |
2 |
25,188,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03334:Grin1
|
APN |
2 |
25,188,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03349:Grin1
|
APN |
2 |
25,200,448 (GRCm39) |
missense |
probably benign |
|
|
PIT4283001:Grin1
|
UTSW |
2 |
25,187,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Grin1
|
UTSW |
2 |
25,187,471 (GRCm39) |
missense |
probably null |
0.82 |
|
R0829:Grin1
|
UTSW |
2 |
25,188,460 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1454:Grin1
|
UTSW |
2 |
25,182,442 (GRCm39) |
nonsense |
probably null |
|
|
R1550:Grin1
|
UTSW |
2 |
25,195,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1969:Grin1
|
UTSW |
2 |
25,187,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2057:Grin1
|
UTSW |
2 |
25,206,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Grin1
|
UTSW |
2 |
25,208,664 (GRCm39) |
missense |
probably null |
1.00 |
|
R2877:Grin1
|
UTSW |
2 |
25,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Grin1
|
UTSW |
2 |
25,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3420:Grin1
|
UTSW |
2 |
25,193,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3422:Grin1
|
UTSW |
2 |
25,193,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3958:Grin1
|
UTSW |
2 |
25,203,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4224:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4225:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4409:Grin1
|
UTSW |
2 |
25,200,451 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4723:Grin1
|
UTSW |
2 |
25,184,482 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4775:Grin1
|
UTSW |
2 |
25,182,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4783:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4784:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4785:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4829:Grin1
|
UTSW |
2 |
25,208,736 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4915:Grin1
|
UTSW |
2 |
25,188,565 (GRCm39) |
intron |
probably benign |
|
|
R5064:Grin1
|
UTSW |
2 |
25,193,843 (GRCm39) |
intron |
probably benign |
|
|
R5103:Grin1
|
UTSW |
2 |
25,200,433 (GRCm39) |
missense |
probably benign |
|
|
R5125:Grin1
|
UTSW |
2 |
25,186,839 (GRCm39) |
intron |
probably benign |
|
|
R5215:Grin1
|
UTSW |
2 |
25,193,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5419:Grin1
|
UTSW |
2 |
25,188,285 (GRCm39) |
splice site |
probably null |
|
|
R6119:Grin1
|
UTSW |
2 |
25,195,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6616:Grin1
|
UTSW |
2 |
25,182,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6894:Grin1
|
UTSW |
2 |
25,185,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Grin1
|
UTSW |
2 |
25,186,647 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7137:Grin1
|
UTSW |
2 |
25,203,550 (GRCm39) |
missense |
probably benign |
|
|
R7544:Grin1
|
UTSW |
2 |
25,195,086 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7693:Grin1
|
UTSW |
2 |
25,208,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7872:Grin1
|
UTSW |
2 |
25,188,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7986:Grin1
|
UTSW |
2 |
25,185,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Grin1
|
UTSW |
2 |
25,187,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8960:Grin1
|
UTSW |
2 |
25,195,428 (GRCm39) |
splice site |
probably benign |
|
|
R9219:Grin1
|
UTSW |
2 |
25,187,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9511:Grin1
|
UTSW |
2 |
25,187,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Grin1
|
UTSW |
2 |
25,187,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Grin1
|
UTSW |
2 |
25,187,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Grin1
|
UTSW |
2 |
25,203,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9729:Grin1
|
UTSW |
2 |
25,187,422 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Grin1
|
UTSW |
2 |
25,195,110 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Grin1
|
UTSW |
2 |
25,187,919 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCATAGACTTTGCCCTC -3'
(R):5'- TCCACCAAGAACCCTTCGTG -3'
Sequencing Primer
(F):5'- GCCCTCTCAGTTCACAGGAC -3'
(R):5'- AGAACCCTTCGTGTATGTCAAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation